Revel Score:
ENST00000355710 (MANE Select)
0.769
ENST00000340058
0.769
ENST00000535749
0.308
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.43120120G>A , CM000672.2:g.43120120G>A | GRCh38 |
| NC_000010.10:g.43615568G>A , CM000672.1:g.43615568G>A | GRCh37 |
| NC_000010.9:g.42935574G>A | NCBI36 |
| NG_007489.1:g.48052G>A , LRG_518:g.48052G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000615310.5:c.2251G>A | ENSP00000480088.2:p.Ala751Thr | |
| ENST00000683007.1:n.2221G>A | ||
| ENST00000683872.1:n.2212G>A | ||
| ENST00000340058.6:c.2647G>A | ENSP00000344798.4:p.Ala883Thr | |
| ENST00000355710.8:c.2647G>A MANE Select | ENSP00000347942.3:p.Ala883Thr | |
| ENST00000671844.1:c.*1241G>A | ENSP00000500541.1:n.*1241G>A | |
| ENST00000672389.1:c.*1241G>A | ENSP00000500252.1:n.*1241G>A | |
| ENST00000340058.5:c.2647G>A | ENSP00000344798.4:p.Ala883Thr | |
| ENST00000355710.7:c.2647G>A | ENSP00000347942.3:p.Ala883Thr | |
| ENST00000615310.4:c.1373G>A | ENSP00000480088.1:p.Ser458Asn | |
| NM_020630.4:c.2647G>A , LRG_518t2:c.2647G>A | NP_065681.1:p.Ala883Thr | |
| NM_020975.4:c.2647G>A , LRG_518t1:c.2647G>A | NP_066124.1:p.Ala883Thr | |
| XM_011540027.1:c.2647G>A | XP_011538329.1:p.Ala883Thr | |
| NM_001355216.1:c.1885G>A | NP_001342145.1:p.Ala629Thr | |
| NM_020630.5:c.2647G>A | NP_065681.1:p.Ala883Thr | |
| NM_020975.5:c.2647G>A | NP_066124.1:p.Ala883Thr | |
| NM_020975.6:c.2647G>A MANE Select | NP_066124.1:p.Ala883Thr | |
| NM_020630.6:c.2647G>A | NP_065681.1:p.Ala883Thr |